Synergy in Action

Orphan Diseases Working Group Activity / Deliverables

Chairs: Joan Busner, PhD; Gahan Pandina, PhD

Upcoming Activity: Working Group Meeting, 2024 Autumn Conference, 12-13 September 2024, San Diego, CA


Ensuring Stakeholder Feedback in the Design and Conduct of Clinical Trials for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group

Special Challenges in Pediatric Drug Development: First of Three Sets of Expanded Proceedings from ISCTM Autumn Conference on Pediatric Drug Development

Implications of Pediatric Initiatives on CNS Drug Development for All Ages – 2020 and Beyond: Second of Three Sets of Expanded Proceedings from the 2020 ISCTM Autumn Conference on Pediatric Drug Development

Patient Centricity: Design and Conduct of Clinical Trials in Orphan Diseases: Third of Three Sets of Expanded Proceedings from ISCTM Autumn Conference on Pediatric Drug Development 

Clinician- and Patient-reported Endpoints in CNS Orphan Drug Clinical Trials: ISCTM Position Paper on Best Practices for Endpoint Selection, Validation, Training, and Standardization

Activity History:

Working Group Session, 20th Annual Scientific Meeting view slides, view summary, 21-23 February 2024, Washington DC

Working Group Session, 2023 Autumn Conference – includes joint day with ECNPview slides, 5-7 October 2023, Barcelona, Spain

Working Group Session, 19th Annual Scientific Meetingview summary, 15-17 February 2023, Washington DC

Working Group Session, 2022 Autumn Conferenceview summary, 8-9 September 2022, Boston MA

Working Group Session – 18th Annual Scientific Meetingview summary – 23-25 February 2022, Washington DC

Working Group Session – Summary2021 Autumn Conference includes joint day with ECNP

Working Group Session, 17th Annual Scientific MeetingSummary– 8 April 2021

Working Group Session – 2020 Autumn Conference – Summary – 20 October 2020. View video invitation

Recent Deliverables: Patient centricity: Design and conduct of clinical trials in orphan diseases – 2020 Autumn Conference

Working Group session, 16th Annual Scientific Meeting, 21 February 2020, Washington DC – Summary

Working Group Session: 2019 Autumn Conference Working Group Summary, 7 September 2019, Copenhagen Denmark (Chairs: Gahan Pandina, Ravi Anand)


  • Group to design a half-day session on patient centricity for a future ISCTM conference
  • Consideration of a white paper on best practices in needs of orphan drug studies, such as inclusion of caregivers in study design and implementation, need for streamlined approach to novel endpoint development, etc.
  • Identification of challenges in orphan drug developing, including real-world case examples

Working Group Session – 15th Annual Scientific Meeting- 19 February 2019, Washington DC
View Patient Centricity Sub-group Summary
View Case Histories Sub-group Summary
Working Group session – 2018 Autumn Conference – 15,16 October 2018, Marina del Rey

Larger group has split into 3 sub-groups.  If you wish to participate in one of the subgroups, please email the Secretariat, and indicate which group.   
—Patient Centricity
—Database of Instructive Case Histories
—Disease Registries

An increasing number of CNS studies are conducted under the orphan diseases umbrella; these studies pose a variety of special methodologic challenges including high placebo response, lack of accepted efficacy endpoints, lack of patient-centered quality of life endpoints, wide heterogeneity in patient presentation, heterogeneity of expected drug response, far-spread study centers, illness-related physical limitations on travel, and lack of research-trained investigators.

Approximately 7,000 diseases have been designated as “orphan,” (affecting less than 200,000 patients in US), with a high proportion of these occurring in childhood and thus qualifying for both pediatric and orphan drug regulatory incentives.  With these incentives in place for drug developers, it is likely that more and more ISCTM members will become involved with such studies and the methodologic challenges that characterize them. 

The working group will work toward identifying key issues, sponsoring symposia, suggesting best practices via ISCTM-approved white papers, and producing publications to help advance the field. 

Working Group Project Page

Current Activity:
Constituting on-going working group to set priorities and work plan for upcoming efforts.  Develop WG session for 2018 Autumn Meeting – Marina del Rey

Most recent activity:
Orphan Diseases Session –  View Presentations: 14th Annual Scientific Meeting, 21 February 2018, Washington DC

Working Group – Autumn 2017 (Due to limited space WG session is not published, please advise chairs if you wish to attend – Saturday 2 September 1:30-3:00)
Developing session for 14th Annual Scientific Meeting